Variant report

Variant	rs10268232
Chromosome Location	chr7:17861809-17861810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17861690..17863309-chr7:17878312..17881070,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10155885	1.00[EUR][1000 genomes]
rs10225214	1.00[EUR][1000 genomes]
rs10226225	1.00[EUR][1000 genomes]
rs10235986	1.00[EUR][1000 genomes]
rs10238484	1.00[EUR][1000 genomes]
rs10241832	1.00[EUR][1000 genomes]
rs10250826	1.00[EUR][1000 genomes]
rs10253993	1.00[EUR][1000 genomes]
rs10257844	1.00[EUR][1000 genomes]
rs10258108	1.00[EUR][1000 genomes]
rs10269246	1.00[EUR][1000 genomes]
rs10270211	1.00[EUR][1000 genomes]
rs10272325	1.00[EUR][1000 genomes]
rs10280462	1.00[EUR][1000 genomes]
rs12386588	1.00[EUR][1000 genomes]
rs12386745	1.00[EUR][1000 genomes]
rs1860876	1.00[EUR][1000 genomes]
rs2041595	1.00[EUR][1000 genomes]
rs2537567	1.00[EUR][1000 genomes]
rs2537569	1.00[EUR][1000 genomes]
rs2537596	1.00[EUR][1000 genomes]
rs2537598	1.00[EUR][1000 genomes]
rs2537600	1.00[EUR][1000 genomes]
rs2537601	1.00[EUR][1000 genomes]
rs2723547	1.00[EUR][1000 genomes]
rs2723582	1.00[EUR][1000 genomes]
rs2723583	1.00[EUR][1000 genomes]
rs2723584	1.00[EUR][1000 genomes]
rs2723585	1.00[EUR][1000 genomes]
rs28432023	1.00[EUR][1000 genomes]
rs28470758	1.00[EUR][1000 genomes]
rs28486053	1.00[EUR][1000 genomes]
rs28573749	1.00[EUR][1000 genomes]
rs73302035	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1792752	chr7:17853983-17908546	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812600-17887600	Weak transcription	Gastric	stomach
2	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
3	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
4	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
6	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
8	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
10	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
11	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:17838800-17887600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:17841000-17862000	Weak transcription	HUVEC	blood vessel
16	chr7:17841200-17883800	Weak transcription	HMEC	breast
17	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:17841400-17862200	Weak transcription	NH-A	brain
19	chr7:17841400-17862200	Weak transcription	NHEK	skin
20	chr7:17841400-17862800	Weak transcription	Stomach Mucosa	stomach
21	chr7:17841600-17879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:17843200-17881800	Weak transcription	A549	lung
23	chr7:17843400-17864000	Weak transcription	Osteobl	bone
24	chr7:17843400-17864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:17843400-17879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:17846000-17900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:17847400-17862200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:17847400-17879000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:17847400-17880600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:17847400-17887600	Weak transcription	Ovary	ovary
31	chr7:17847400-17887600	Weak transcription	Spleen	Spleen
32	chr7:17847600-17887600	Weak transcription	Fetal Stomach	stomach
33	chr7:17847800-17862200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:17847800-17864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:17851400-17865400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:17852600-17879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:17852600-17887800	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:17852600-17896000	Weak transcription	Fetal Kidney	kidney
39	chr7:17852600-17902800	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:17852800-17862400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:17852800-17880600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:17852800-17887000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:17852800-17890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:17852800-17895000	Weak transcription	Brain Germinal Matrix	brain
45	chr7:17853000-17880400	Weak transcription	Thymus	Thymus
46	chr7:17853200-17862400	Weak transcription	Fetal Lung	lung
47	chr7:17853400-17862000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:17853400-17862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:17853400-17884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:17853400-17887600	Weak transcription	Aorta	Aorta

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